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Results for
""C9orf72 Protein""[mesh_terms]

17 Results

Searching titles within these results

Amyotrophic lateral sclerosis: a clinical review.

P Masrori, P Van Damme

European journal of neurology 2021;27(10):1918-1929

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Factors predicting disease progression in C9ORF72 ALS patients.

Jessica Mandrioli, Elisabetta Zucchi, Ilaria Martinelli, Laura Van der Most, Giulia Gianferrari, Cristina Moglia, Umberto Manera, Luca Solero, Rosario Vasta, Antonio Canosa, Maurizio Grassano, Maura Brunetti, Letizia Mazzini, Fabiola De Marchi, Cecilia Simonini, Nicola Fini, Rossella Tupler, Marco Vinceti, Adriano Chiò, Andrea Calvo

Journal of neurology 2023;270(2):877-890

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Motor neuron disease: current management and future prospects.

N G Simon, W Huynh, S Vucic, K Talbot, M C Kiernan

Internal medicine journal 2016;45(10):1005-13

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Pharmacogenetic interactions in amyotrophic lateral sclerosis: a step closer to a cure?

Ruben P A van Eijk, Marinus J C Eijkemans, Stavros Nikolakopoulos, Marc D Jansen, Henk-Jan Westeneng, Kristel R van Eijk, Rick A A van der Spek, Joke J F A van Vugt, Sanne Piepers, Geert-Jan Groeneveld, Jan H Veldink, Leonard H van den Berg, Michael A van Es

The pharmacogenomics journal 2021;20(2):220-226

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Genetic variation associated with the occurrence and progression of neurological disorders.

Julian Little, Caroline Barakat-Haddad, Rosemary Martino, Tamara Pringsheim, Helen Tremlett, Kyla A McKay, Pascal van Lieshout, Stephanie J Walsh, James Gomes, Daniel Krewski

Neurotoxicology 2018;61():243-264

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Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial.

Peter R Young, Leonard Petrucelli, Jeffrey D Rothstein, Andrea Swenson, Suma Babu, Sabrina Paganoni, Eric A Macklin, Katharine A Nicholson, Paul J Sampognaro, Pravin Pant, Susan Spruill, Tania F Gendron, Mercedes Prudencio, Darrell Nix, Sean Landrette, Esther Nkrumah, Keith Fandrick, Joan Edwards

Brain : a journal of neurology 2024;147(9):2998-3008

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Relationship between C9orf72 repeat size and clinical phenotype.

Sara Van Mossevelde, Julie van der Zee, Marc Cruts, Christine Van Broeckhoven

Current opinion in genetics & development 2018;44():117-124

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Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis.

Carmine Ungaro, Teresa Sprovieri, Giovanna Morello, Benedetta Perrone, Antonio Gianmaria Spampinato, Isabella Laura Simone, Francesca Trojsi, Maria Rosaria Monsurrò, Rossella Spataro, Vincenzo La Bella, Sebastiano Andò, Sebastiano Cavallaro, Francesca Luisa Conforti

Neurobiology of aging 2021;99():99.e7-99.e14

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Characterization of human healthy i lower motor neurons exposed to CSF from ALS patients stratified by UNC13A and C9ORF72 genotype.

Enrico Pellegrini, Federico Verde, Claudia Colombrita, Antonia Ratti, Vincenzo Silani, Nicola Ticozzi, Valeria Casiraghi, Serena Santangelo, Sabrina Invernizzi, Alberto Brusati, Silvia Peverelli

Journal of the neurological sciences 2025;473():123508

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An amyloid-like cascade hypothesis for C9orf72 ALS/FTD.

Dieter Edbauer, Christian Haass

Current opinion in neurobiology 2016;36():99-106

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The serum lipid profiles of amyotrophic lateral sclerosis patients: A study from south-west China and a meta-analysis.

Rui Huang, Xiaoyan Guo, Xueping Chen, Zhenzhen Zheng, Qianqian Wei, Bei Cao, Yan Zeng, Huifang Shang

Amyotrophic lateral sclerosis & frontotemporal degeneration 2016;16(5-6):359-65

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Cholesterol, oxysterol, triglyceride, and coenzyme Q homeostasis in ALS. Evidence against the hypothesis that elevated 27-hydroxycholesterol is a pathogenic factor.

Anna Wuolikainen, Jure Acimovic, Anita Lövgren-Sandblom, Paolo Parini, Peter M Andersen, Ingemar Björkhem

PloS one 2015;9(11):e113619

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Unveiling New Genetic Variants Associated with Age at Onset in Alzheimer's Disease and Frontotemporal Lobar Degeneration Due to Repeat Expansions.

Roberta Ghidoni, Silvia Fostinelli, Claudia Saraceno, Giuliano Binetti, Antonio Longobardi, Ilenia Libri, Sonia Bellini, Barbara Borroni, Alessandro Padovani, Andrea Pilotto, Chiara Tolassi, Roland Nicsanu, Andrea Geviti, Alessandro Facconi

International journal of molecular sciences 2024;25(13):

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Altered calcium dynamics and glutamate receptor properties in iPSC-derived motor neurons from ALS patients with C9orf72, FUS, SOD1 or TDP43 mutations.

Franziska Bursch, Norman Kalmbach, Maximilian Naujock, Selma Staege, Reto Eggenschwiler, Masin Abo-Rady, Julia Japtok, Wenting Guo, Niko Hensel, Peter Reinhardt, Tobias M Boeckers, Tobias Cantz, Jared Sterneckert, Ludo Van Den Bosch, Andreas Hermann, Susanne Petri, Florian Wegner

Human molecular genetics 2020;28(17):2835-2850

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Combined Transcriptomics and Proteomics in Frontal Cortex Area 8 in Frontotemporal Lobar Degeneration Linked to C9ORF72 Expansion.

Pol Andrés-Benito, Ellen Gelpi, Mónica Povedano, Karina Ausín, Joaquín Fernández-Irigoyen, Enrique Santamaría, Isidro Ferrer

Journal of Alzheimer's disease : JAD 2020;68(3):1287-1307

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Results: 1 – 15 / 17

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Expert Opinion

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Results for ""C9orf72 Protein""[mesh_terms]

Amyotrophic lateral sclerosis: a clinical review.

Factors predicting disease progression in C9ORF72 ALS patients.

Motor neuron disease: current management and future prospects.

Pharmacogenetic interactions in amyotrophic lateral sclerosis: a step closer to a cure?

Genetic variation associated with the occurrence and progression of neurological disorders.

Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial.

Relationship between C9orf72 repeat size and clinical phenotype.

Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis.

Characterization of human healthy i lower motor neurons exposed to CSF from ALS patients stratified by UNC13A and C9ORF72 genotype.

An amyloid-like cascade hypothesis for C9orf72 ALS/FTD.

The serum lipid profiles of amyotrophic lateral sclerosis patients: A study from south-west China and a meta-analysis.

Cholesterol, oxysterol, triglyceride, and coenzyme Q homeostasis in ALS. Evidence against the hypothesis that elevated 27-hydroxycholesterol is a pathogenic factor.

Unveiling New Genetic Variants Associated with Age at Onset in Alzheimer's Disease and Frontotemporal Lobar Degeneration Due to Repeat Expansions.

Altered calcium dynamics and glutamate receptor properties in iPSC-derived motor neurons from ALS patients with C9orf72, FUS, SOD1 or TDP43 mutations.

Combined Transcriptomics and Proteomics in Frontal Cortex Area 8 in Frontotemporal Lobar Degeneration Linked to C9ORF72 Expansion.

Results for
""C9orf72 Protein""[mesh_terms]